Pex2^tm1Plf
Targeted Allele Detail

Summary

• Symbol: Pex2^tm1Plf
• Name: peroxisomal biogenesis factor 2; targeted mutation 1, Phyllis L Faust
• MGI ID: MGI:2180128
• Synonyms: PEX2-
• Gene: Pex2 Location: Chr3:5625248-5641299 bp, - strand Genetic Position: Chr3, 1.96 cM
• Alliance: Pex2^tm1Plf page

Variable size of and cranial abnormalities in Pex2^tm1Plf/Pex2^tm1Plf mice

Show the 4 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:44975
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A PKC-neo cassette was used to replace exon 5, which contains the translation initiation site and the entire coding sequence. Northern analysis of RNA isolated from the liver, brain, and kidney of homozygous mutant mice revealed an absence of message. (J:44975)

Expression

In Structures Affected by this Mutation:

13 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 3 strains available Cell Lines: 0 lines available
• Carrying any Pex2 Mutation: 16 strains or lines available

References

• Original: J:44975 Faust PL, et al., Targeted deletion of the PEX2 peroxisome assembly gene in mice provides a model for Zellweger syndrome, a human neuronal migration disorder. J Cell Biol. 1997 Dec 1;139(5):1293-305
• All: 13 reference(s)